Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozym...
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| 出版年: | J Clin Invest |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society for Clinical Investigation
1990
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296899/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2147027/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114871 |
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